Incidental Mutation 'IGL01403:4930430A15Rik'
| ID |
79730 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
4930430A15Rik
|
| Ensembl Gene |
ENSMUSG00000027157 |
| Gene Name |
RIKEN cDNA 4930430A15 gene |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL01403
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
111162061-111229602 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 111229170 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028577]
[ENSMUST00000099620]
[ENSMUST00000216421]
[ENSMUST00000217539]
|
| AlphaFold |
Q05AC5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028577
|
| SMART Domains |
Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
78 |
107 |
1.61e-4 |
SMART |
|
ANK
|
111 |
140 |
3.6e-2 |
SMART |
|
ANK
|
144 |
173 |
4.89e-4 |
SMART |
|
ANK
|
177 |
206 |
4.03e-5 |
SMART |
|
ANK
|
210 |
239 |
8.72e-1 |
SMART |
|
Blast:ANK
|
243 |
272 |
4e-12 |
BLAST |
|
low complexity region
|
460 |
472 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099620
|
| SMART Domains |
Protein: ENSMUSP00000097215
Gene: ENSMUSG00000074966
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
305 |
9.8e-37 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
5.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217539
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,872,867 (GRCm38) |
L1103Q |
probably damaging |
Het |
| Adam12 |
T |
A |
7: 133,919,610 (GRCm38) |
Q605L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,234,915 (GRCm38) |
K102R |
probably damaging |
Het |
| Afdn |
C |
T |
17: 13,903,870 (GRCm38) |
P1761S |
probably damaging |
Het |
| Ascc1 |
A |
G |
10: 60,012,458 (GRCm38) |
|
probably benign |
Het |
| Aspdh |
A |
G |
7: 44,466,559 (GRCm38) |
|
probably null |
Het |
| Bbx |
T |
C |
16: 50,202,513 (GRCm38) |
I753V |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,117,385 (GRCm38) |
Y186C |
probably damaging |
Het |
| Ccdc78 |
T |
A |
17: 25,788,244 (GRCm38) |
|
probably null |
Het |
| Ckmt1 |
T |
C |
2: 121,362,966 (GRCm38) |
|
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,114,825 (GRCm38) |
T322A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,116,300 (GRCm38) |
|
probably benign |
Het |
| Dr1 |
A |
G |
5: 108,269,710 (GRCm38) |
N41D |
possibly damaging |
Het |
| Ehmt1 |
G |
A |
2: 24,839,626 (GRCm38) |
T633I |
possibly damaging |
Het |
| Fgf7 |
T |
A |
2: 126,035,940 (GRCm38) |
Y76N |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,593,097 (GRCm38) |
W5038R |
probably damaging |
Het |
| Ighv14-1 |
A |
G |
12: 113,932,242 (GRCm38) |
V21A |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,963,436 (GRCm38) |
I75F |
probably damaging |
Het |
| Inhbc |
T |
A |
10: 127,370,099 (GRCm38) |
I100F |
probably damaging |
Het |
| Irs3 |
A |
G |
5: 137,645,319 (GRCm38) |
F68L |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,118,595 (GRCm38) |
C2460S |
probably damaging |
Het |
| Krt34 |
A |
G |
11: 100,038,290 (GRCm38) |
C365R |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,463,388 (GRCm38) |
H104Y |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,158,648 (GRCm38) |
N82S |
probably damaging |
Het |
| Mrpl58 |
A |
T |
11: 115,406,578 (GRCm38) |
I72F |
probably damaging |
Het |
| Myo9a |
G |
A |
9: 59,871,563 (GRCm38) |
R1534H |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,555,129 (GRCm38) |
F239L |
probably benign |
Het |
| Nsd2 |
A |
G |
5: 33,885,378 (GRCm38) |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,623,186 (GRCm38) |
V427A |
probably benign |
Het |
| Or52b1 |
G |
A |
7: 105,329,398 (GRCm38) |
R265C |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,967,621 (GRCm38) |
T75A |
possibly damaging |
Het |
| Pde4a |
A |
T |
9: 21,205,116 (GRCm38) |
I467F |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,483,833 (GRCm38) |
C198* |
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,424,288 (GRCm38) |
V1312A |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 5,959,093 (GRCm38) |
H79R |
probably benign |
Het |
| Pramel15 |
A |
T |
4: 144,377,133 (GRCm38) |
M141K |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,234,983 (GRCm38) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,443,300 (GRCm38) |
K3112E |
probably damaging |
Het |
| Slc6a4 |
G |
T |
11: 77,031,672 (GRCm38) |
V630L |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,158,132 (GRCm38) |
|
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,791,074 (GRCm38) |
T510A |
possibly damaging |
Het |
| Usp18 |
T |
A |
6: 121,268,668 (GRCm38) |
H334Q |
possibly damaging |
Het |
| Vmn2r103 |
T |
C |
17: 19,792,967 (GRCm38) |
Y117H |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,479 (GRCm38) |
D1857E |
probably benign |
Het |
|
| Other mutations in 4930430A15Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:4930430A15Rik
|
APN |
2 |
111,220,762 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01431:4930430A15Rik
|
APN |
2 |
111,225,395 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01601:4930430A15Rik
|
APN |
2 |
111,193,478 (GRCm38) |
missense |
unknown |
|
|
IGL01649:4930430A15Rik
|
APN |
2 |
111,214,576 (GRCm38) |
splice site |
probably benign |
|
|
IGL02355:4930430A15Rik
|
APN |
2 |
111,211,651 (GRCm38) |
splice site |
probably benign |
|
|
IGL02362:4930430A15Rik
|
APN |
2 |
111,211,651 (GRCm38) |
splice site |
probably benign |
|
|
IGL02485:4930430A15Rik
|
APN |
2 |
111,228,325 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02620:4930430A15Rik
|
APN |
2 |
111,211,625 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03156:4930430A15Rik
|
APN |
2 |
111,200,412 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02980:4930430A15Rik
|
UTSW |
2 |
111,164,473 (GRCm38) |
missense |
unknown |
|
|
R0577:4930430A15Rik
|
UTSW |
2 |
111,194,349 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0638:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0645:4930430A15Rik
|
UTSW |
2 |
111,214,583 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0671:4930430A15Rik
|
UTSW |
2 |
111,204,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0829:4930430A15Rik
|
UTSW |
2 |
111,198,105 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1464:4930430A15Rik
|
UTSW |
2 |
111,225,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1464:4930430A15Rik
|
UTSW |
2 |
111,225,403 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1486:4930430A15Rik
|
UTSW |
2 |
111,200,358 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1509:4930430A15Rik
|
UTSW |
2 |
111,218,627 (GRCm38) |
missense |
probably benign |
|
|
R1672:4930430A15Rik
|
UTSW |
2 |
111,220,774 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2073:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2074:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2075:4930430A15Rik
|
UTSW |
2 |
111,200,418 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2899:4930430A15Rik
|
UTSW |
2 |
111,220,670 (GRCm38) |
splice site |
probably benign |
|
|
R2965:4930430A15Rik
|
UTSW |
2 |
111,204,019 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R3110:4930430A15Rik
|
UTSW |
2 |
111,228,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3112:4930430A15Rik
|
UTSW |
2 |
111,228,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4489:4930430A15Rik
|
UTSW |
2 |
111,220,702 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4821:4930430A15Rik
|
UTSW |
2 |
111,204,145 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4925:4930430A15Rik
|
UTSW |
2 |
111,218,616 (GRCm38) |
missense |
probably benign |
0.41 |
|
R5045:4930430A15Rik
|
UTSW |
2 |
111,193,459 (GRCm38) |
missense |
unknown |
|
|
R5057:4930430A15Rik
|
UTSW |
2 |
111,225,421 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5128:4930430A15Rik
|
UTSW |
2 |
111,164,329 (GRCm38) |
nonsense |
probably null |
|
|
R5250:4930430A15Rik
|
UTSW |
2 |
111,228,077 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5333:4930430A15Rik
|
UTSW |
2 |
111,194,337 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5376:4930430A15Rik
|
UTSW |
2 |
111,215,599 (GRCm38) |
missense |
probably benign |
0.44 |
|
R5677:4930430A15Rik
|
UTSW |
2 |
111,211,565 (GRCm38) |
missense |
probably benign |
|
|
R5722:4930430A15Rik
|
UTSW |
2 |
111,204,123 (GRCm38) |
missense |
probably benign |
|
|
R5735:4930430A15Rik
|
UTSW |
2 |
111,225,492 (GRCm38) |
nonsense |
probably null |
|
|
R6170:4930430A15Rik
|
UTSW |
2 |
111,227,948 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6366:4930430A15Rik
|
UTSW |
2 |
111,169,592 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6496:4930430A15Rik
|
UTSW |
2 |
111,164,472 (GRCm38) |
missense |
unknown |
|
|
R6654:4930430A15Rik
|
UTSW |
2 |
111,171,884 (GRCm38) |
missense |
unknown |
|
|
R6983:4930430A15Rik
|
UTSW |
2 |
111,228,250 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7371:4930430A15Rik
|
UTSW |
2 |
111,193,481 (GRCm38) |
missense |
unknown |
|
|
R7958:4930430A15Rik
|
UTSW |
2 |
111,170,325 (GRCm38) |
missense |
unknown |
|
|
R8421:4930430A15Rik
|
UTSW |
2 |
111,218,610 (GRCm38) |
nonsense |
probably null |
|
|
R8495:4930430A15Rik
|
UTSW |
2 |
111,229,410 (GRCm38) |
start codon destroyed |
probably null |
0.33 |
|
R8534:4930430A15Rik
|
UTSW |
2 |
111,228,035 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8671:4930430A15Rik
|
UTSW |
2 |
111,229,532 (GRCm38) |
unclassified |
probably benign |
|
|
R8679:4930430A15Rik
|
UTSW |
2 |
111,229,222 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R8743:4930430A15Rik
|
UTSW |
2 |
111,169,672 (GRCm38) |
missense |
unknown |
|
|
R8983:4930430A15Rik
|
UTSW |
2 |
111,200,356 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9213:4930430A15Rik
|
UTSW |
2 |
111,190,354 (GRCm38) |
missense |
unknown |
|
|
R9457:4930430A15Rik
|
UTSW |
2 |
111,170,286 (GRCm38) |
missense |
unknown |
|
|
R9723:4930430A15Rik
|
UTSW |
2 |
111,228,355 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9745:4930430A15Rik
|
UTSW |
2 |
111,169,663 (GRCm38) |
missense |
unknown |
|
|
| Posted On |
2013-11-05 |
Incidental Mutation